Wow, i dont think i have been more nervous in my life than i was this morning, i took the boys to school, chatted with Jai's teachers a bit, went and visited my sister and picked up Jai and went home to wait for Holger to get back from work ready for the dreaded appointment.
We finally found a rather tight car parking space at the hospital and walked through the entrance and down the long hallway to the main building inhaling the strong smell of disinfectant, we dodged a mass of elderly women who were bustling around a bizarre book fair type of set up smack bang in the middle of the reception area and found the lifts to level 5 Paediatrics and Genetics. The whole floor looked much like someone had bought every colour of paint available and splashed it across the walls in no particular pattern, i kind of felt like i was at the Wonka Chocolate factory without the chocolate. A young nurse directed us to the Genetics department which was a rather small series of rooms sharing with the Juvinielle Diabetes department. We took our seats in the waiting room and a bubbly women told us the Genetisist would be along shortly. Another couple appeared in the waiting room with a very young baby with a nasal tube attached to her tiny face, Jaiden of course started a conversation with them the minute they entered the room and instantly got smiles. A tall man in a suit came in and spoke to them briefly before directing us through to a larger room accross the hallway. We sat down and were joined by the Genetic counceller and a Genetics student. The tall man introduced himself as our Genetisist and he had a warm smile which made me feel really comfortable - not a feeling i usually get from specialists. He had also seen several WS patients before.
As soon as we entered the room Jaiden went into "internal mode" and his only form of communication became his huge smile. We explained why we were here and went through the same barrage of questions from the phone call with a quick correction on the birth weight, he went on to examine Jaiden extensivly and spoke to us about what he was doing as he was doing it. He studied Jaidens eyes for ages and took some clinical photos of the marked "Stallate pattern" to use for teaching purposes, we were also informed that Jai has a problem with his retina not likely to be related in any way to the genetics but we were reccommended to get a refferal to an opthomologist ASAP as this would need to be corrected. Hmmm..
Another new discovery was that Jai has a soft pallate and promenent Cleft of his Uvula (little dangly bit in the throat) which has somehow been missed by a zillion doctors and an ENT and that under no curcumstances should Jai EVER have his Adnoids out as this would collapse his pallate entirely and cause all sorts of problems. Well...
After all the examining and talking the conclusion was that he doesnt really feel WS fits properly due to gross motor skills being pretty good, his nose wasnt really as turned up as he would expect to see from WS and he didnt feel he was social enough (although something about doctors offices makes Jai very quiet and very complient, not his usual self - i reckon he was scared!), however the geneticist did feel that due to all the other symptoms, behaviour and especially the Stallate Iris pattern it certainly needed to be tested for if only to be ruled out. His hunch is that it is actually a 22q Deletion Valo-Cardio-Facio-Syndrome, which i have to go and re-study as in my internet self diagnosis search i had ruled that out for some reason. So in the end he tested for WS, 22q, Fragile X and a general Karotype + urine analysis - we should have the results back in 1 month and he said that if these tests comeback negative then we should come back and do some furthur testing as he feels that Jai's problem is definatly of a Genetic nature.
I think today was the first day Holger really grasped that Jai is not and probably never will be 'Typical'- i could see that realisation on his face as Jai had the bloods drawn, I feel suprisingly emotionless - im relieved that this day has been and that i didnt get persecuted for my internet research in any way and i also feel comfortable with the Genetisist and felt i could be open and ask questions.
So i guess, now we wait.
Monday, November 19, 2007
Subscribe to:
Post Comments (Atom)
9 comments:
Oh - I am glad that you liked the the genetisist - appointments like that are nervewracking. I hope that they can find a diagnosis for you soon - in the end it doesn't really matter - Jai is Jai - but I know that as a parent it is nice to be able to pidgeon hole the cause and be able to be on the look out for any more specific related issues never mind any funding issues that seem to arise if there isn't a clear diagnosis.
Okay, then I will be emotional for you. I'm looking up velo-cardial right now. I did it before too, and ruled it out for caleb. I think that was while I was waiting for the FISH results. You know.. doubting myself. Love ya!
Katie,
I hope you get an answer either way. I have no doubt it will be a long month. We are here for you if you need to lean a little. I can't believe you admitted to searching on the internet. I never confess that stuff. :)
I hope you get answers soon, for better or worse. Waiting is so hard on a family.
I remember only too well that sinking feeling you get when the realization hits that your child (or grandchild) will not be typical. I cried for weeks, and sometimes I still do.
No matter the diagnosis, you are among a fine group of women who have been there and can help you in many ways.
I'll be thinking of you.
Hmmm, more questions, still waiting for answers. Oh Holger, I think he still had hope but as Shelley said, Jai is still Jai. Oh Katie, you are still my sister no matter the results. Let's just hope for some answers that can help Jai thrive.
XOXO
Amy
I'm so thankful you liked the geneticist. I am so glad they are testing him and looking for a diagnosis...you as parents need that. I know this will be a long month for you.....and now I'm going to go and look up velo-cardio right now.
Wow, I am glad you are getting a little closer to your answers, but I wish it would speed up a bit so you can move on. Thinking of you over here ~
I hope this month goes by quickly, I hate the waiting game.
Katie you and your family will be in my thoughts and I will pray this month will not be a stressful one and you get some answers soon for your Jai!
So glad you like this doctor. Hopefully you able to get a definate answer and a diagnosis.
I hear you about going into that emotionless mode. I tend to do that while we are having to go through things. I call it my automatic pilot mode...do what needs to be done without being too emotional, then all the emotions come in after it's over.
Just know we are all here for you, always!
Post a Comment